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NEUROLOGY 2005;64:1304-1306
© 2005 American Academy of Neurology
Brief Communications

PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia

D. A. Hall, MD, M. A. Leehey, MD, C. M. Filley, MD, E. Steinbart, MA, T. Montine, MD, G. D. Schellenberg, PhD, P. Bosque, MD, R. Nixon, MD, PhD and T. Bird, MD

From the Department of Neurology (Drs. Hall, Leehey, Filley, and Bosque), University of Colorado Health Sciences Center, Department of Neurology (Drs. Hall, Leehey, and Filley), Denver Veterans Affairs Medical Center, and Department of Medicine (Dr. Bosque), Denver Health Medical Center, Denver, CO, Departments of Neurology, Medicine, and Pathology (Drs. Montine, Schellenberg, and Bird, E. Steinbart), University of Washington, and Geriatric Research Education and Clinical Center (Drs. Schellenberg and Bird), Veterans Affairs Medical Center, Seattle, WA, and Department of Pathology (Dr. Nixon), Oregon Health Sciences University, Portland.

Address correspondence and reprint requests to Dr. D.A. Hall, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., B183, Denver, CO 80262; e-mail: deborah.hall{at}uchsc.edu

Described is a large family with an autosomal dominant dementia associated with an H187R mutation in the prion protein gene (PRNP). Clinical features include neuropsychiatric disturbances in childhood and adolescence, dementia in young adulthood with frontotemporal manifestations, and long disease duration. Neuropathology revealed atrophy and mild gliosis, whereas prion protein analysis revealed an abnormal conformer with unusual sensitivity to protease digestion. Mutations in PRNP may cause neuropsychiatric disorders that predate dementia by many years.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the April 12 issue to find the title link for this article.

Supported by an American Academy of Neurology Clinical Research Fellowship (D.A.H.) and grant NIA-AG05136 and the VA Research Fund (T.B., E.S., G.S.).

Received June 11, 2004. Accepted in final form December 23, 2004.




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